Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy |
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Authors: | Thompson D A Li Y McHenry C L Carlson T J Ding X Sieving P A Apfelstedt-Sylla E Gal A |
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Institution: | Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, USA. dathom@umich.edu |
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Abstract: | The chromophore of the visual pigments, 11-cis retinal, is derived from vitamin A (all-trans retinol) through a series of reactions that take place in retinal pigment epithelium (RPE); (ref. 1). The first of these reactions is catalyzed by lecithin retinol acyltransferase (LRAT); (ref. 2). We screened 267 retinal dystrophy patients for mutations in LRAT and identified disease-associated mutations (S175R and 396delAA) in three individuals with severe, early-onset disease. We showed that the S175R mutant has no acyltransferase activity in transfected COS-7 cells. Our findings highlight the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extend prospects for retinoid replacement therapy in this group of diseases. |
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